Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case

Authors

  • Xueling Ou,

    1. From the Department of Forensic Medicine and the Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou; the Guangzhou Institute of Criminal Science and Technology, Guangzhou; and the Center of Forensic Sciences, Fujian Southern, Fuzhou, PR China.
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    • These authors contributed equally to the article.

  • Chao Liu,

    1. From the Department of Forensic Medicine and the Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou; the Guangzhou Institute of Criminal Science and Technology, Guangzhou; and the Center of Forensic Sciences, Fujian Southern, Fuzhou, PR China.
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    • These authors contributed equally to the article.

  • Suqin Chen,

    1. From the Department of Forensic Medicine and the Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou; the Guangzhou Institute of Criminal Science and Technology, Guangzhou; and the Center of Forensic Sciences, Fujian Southern, Fuzhou, PR China.
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  • Jianfeng Yu,

    1. From the Department of Forensic Medicine and the Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou; the Guangzhou Institute of Criminal Science and Technology, Guangzhou; and the Center of Forensic Sciences, Fujian Southern, Fuzhou, PR China.
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  • Yinming Zhang,

    1. From the Department of Forensic Medicine and the Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou; the Guangzhou Institute of Criminal Science and Technology, Guangzhou; and the Center of Forensic Sciences, Fujian Southern, Fuzhou, PR China.
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  • Sujuan Liu,

    1. From the Department of Forensic Medicine and the Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou; the Guangzhou Institute of Criminal Science and Technology, Guangzhou; and the Center of Forensic Sciences, Fujian Southern, Fuzhou, PR China.
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  • Hongyu Sun

    Corresponding author
    1. From the Department of Forensic Medicine and the Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou; the Guangzhou Institute of Criminal Science and Technology, Guangzhou; and the Center of Forensic Sciences, Fujian Southern, Fuzhou, PR China.
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Hongyu Sun, Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, No. 74 Zhongshan Road II, Guangzhou 510089, PR. China; e-mail: sunhy@mail.sysu.edu.cn.

Abstract

BACKGROUND: Uniparental disomy (UPD) is a rare cytogenetic event that has previously been reported mostly via genetic analysis of patients with phenotypes of recessive diseases. The incidence of UPD of any chromosome is estimated to be approximately1:3500 live births.

CASE REPORT: In a case of disputed paternity involving a phenotypically normal male child, mother–child exclusions were observed at five short tandem repeat markers, which were all located on Chromosome 2. Ten additional dinucleotide repeat markers spanning both arms of Chromosome 2 were investigated. The results revealed that the child was homozygous for all markers tested with all alleles originating from a single paternal Chromosome 2, which was consistent with paternal UPD for Chromosome 2.

CONCLUSION: This case and other previous reports demonstrate that UPD poses a high risk for false exclusion and incorrect expert opinion. Furthermore, this case highlights that a conclusion of exclusion of paternity or maternity should not be postulated if multiple genetic incompatibilities are located on the same chromosome because of the occurrence of UPD.

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